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Volumn 89, Issue 4, 2008, Pages 800-808

Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests

Author keywords

ART; chromosome aberrations; cystic fibrosis; genetic screening

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 41949086042     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2007.04.032     Document Type: Article
Times cited : (40)

References (40)
  • 1
    • 0029077209 scopus 로고
    • The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility
    • Silber S.J., Nagy Z., Liu J., Tournaye H., Lissens W., Ferec C., et al. The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility. Hum Reprod 10 (1995) 2031-2043
    • (1995) Hum Reprod , vol.10 , pp. 2031-2043
    • Silber, S.J.1    Nagy, Z.2    Liu, J.3    Tournaye, H.4    Lissens, W.5    Ferec, C.6
  • 2
    • 0032212972 scopus 로고    scopus 로고
    • Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates
    • Scholtes M.C., Behrend C., Dietzel-Dahmen J., van Hoogstraten D.G., Marx K., Wohlers S., et al. Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fertil Steril 70 (1998) 933-937
    • (1998) Fertil Steril , vol.70 , pp. 933-937
    • Scholtes, M.C.1    Behrend, C.2    Dietzel-Dahmen, J.3    van Hoogstraten, D.G.4    Marx, K.5    Wohlers, S.6
  • 3
    • 0036559838 scopus 로고    scopus 로고
    • Y-chromosome microdeletions and cytogenetic findings in unselected ICSI candidates at a Danish fertility clinic
    • Bor P., Hindkjær J., Kølvraa S., and Ingerslev J. Y-chromosome microdeletions and cytogenetic findings in unselected ICSI candidates at a Danish fertility clinic. J Assist Reprod Genet 19 (2002) 224-231
    • (2002) J Assist Reprod Genet , vol.19 , pp. 224-231
    • Bor, P.1    Hindkjær, J.2    Kølvraa, S.3    Ingerslev, J.4
  • 4
    • 4444283148 scopus 로고    scopus 로고
    • Report on optimal evaluation of the infertile male
    • Male Infertility Best Practice Policy Committee of the American Urological Association and Practice Committee of the American Society for Reproductive Medicine
    • Male Infertility Best Practice Policy Committee of the American Urological Association and Practice Committee of the American Society for Reproductive Medicine. Report on optimal evaluation of the infertile male. Fertil Steril 82 Suppl 1 (2004) S123-S130
    • (2004) Fertil Steril , vol.82 , Issue.SUPPL. 1
  • 5
    • 0033936574 scopus 로고    scopus 로고
    • Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection
    • Schreurs A., Legius E., Meuleman C., Fryns J.P., and D'Hooghe T.M. Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection. Fertil Steril 74 (2000) 94-96
    • (2000) Fertil Steril , vol.74 , pp. 94-96
    • Schreurs, A.1    Legius, E.2    Meuleman, C.3    Fryns, J.P.4    D'Hooghe, T.M.5
  • 6
    • 0031909539 scopus 로고    scopus 로고
    • Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection
    • Van der Ven K., Peschka B., Montag M., Lange R., Schwanitz G., and van der Ven H.H. Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum Reprod 13 (1998) 48-54
    • (1998) Hum Reprod , vol.13 , pp. 48-54
    • Van der Ven, K.1    Peschka, B.2    Montag, M.3    Lange, R.4    Schwanitz, G.5    van der Ven, H.H.6
  • 7
    • 0032884558 scopus 로고    scopus 로고
    • Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection
    • Peschka B., Leygraaf J., Van der Ven K., Montag M., Schartmann B., Schubert R., et al. Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod 14 (1999) 2257-2263
    • (1999) Hum Reprod , vol.14 , pp. 2257-2263
    • Peschka, B.1    Leygraaf, J.2    Van der Ven, K.3    Montag, M.4    Schartmann, B.5    Schubert, R.6
  • 8
    • 0035187717 scopus 로고    scopus 로고
    • Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men
    • Gekas J., Thepot F., Turleau C., Siffroi J.P., Dadoune J.P., Briault S., et al. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod 16 (2001) 82-90
    • (2001) Hum Reprod , vol.16 , pp. 82-90
    • Gekas, J.1    Thepot, F.2    Turleau, C.3    Siffroi, J.P.4    Dadoune, J.P.5    Briault, S.6
  • 9
    • 0031943492 scopus 로고    scopus 로고
    • Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection-prevalence, types, sex distribution and reproductive relevance
    • Meschede D., Lemcke B., Exeler J.R., De Geyter C., Behre H.M., Nieschlag E., and Horst J. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection-prevalence, types, sex distribution and reproductive relevance. Hum Reprod 13 (1998) 576-582
    • (1998) Hum Reprod , vol.13 , pp. 576-582
    • Meschede, D.1    Lemcke, B.2    Exeler, J.R.3    De Geyter, C.4    Behre, H.M.5    Nieschlag, E.6    Horst, J.7
  • 10
    • 0036063359 scopus 로고    scopus 로고
    • Guidelines for the appropriate use of genetic tests in infertile couples
    • Foresta C., Ferlin A., Gianaroli L., and Dallapiccola B. Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet 10 (2002) 303-312
    • (2002) Eur J Hum Genet , vol.10 , pp. 303-312
    • Foresta, C.1    Ferlin, A.2    Gianaroli, L.3    Dallapiccola, B.4
  • 12
    • 0029025333 scopus 로고
    • Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
    • Chillon M., Casals T., Mercier B., Bassas L., Lissens W., Silber S., et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 332 (1995) 1475-1480
    • (1995) N Engl J Med , vol.332 , pp. 1475-1480
    • Chillon, M.1    Casals, T.2    Mercier, B.3    Bassas, L.4    Lissens, W.5    Silber, S.6
  • 13
    • 0002418993 scopus 로고
    • The frequency of chromosome abnormalities detected in consecutive new-born studies. Differences between studies. Results by sex and severity of phenotypic involvement
    • Hook E.B., and Porter I.H. (Eds), Academic Press, New York
    • Hook E.B., and Hamerton J.L. The frequency of chromosome abnormalities detected in consecutive new-born studies. Differences between studies. Results by sex and severity of phenotypic involvement. In: Hook E.B., and Porter I.H. (Eds). Population cytogenetics. New York State Department of Health, Birth Defects Institute, symposium, Albany, New York, October 1975 (1975), Academic Press, New York 63-79
    • (1975) Population cytogenetics. New York State Department of Health, Birth Defects Institute, symposium, Albany, New York, October 1975 , pp. 63-79
    • Hook, E.B.1    Hamerton, J.L.2
  • 14
    • 0026574505 scopus 로고
    • Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding
    • Jacobs P.A., Browne C., Gregson N., Joyce C., and White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 29 (1992) 103-108
    • (1992) J Med Genet , vol.29 , pp. 103-108
    • Jacobs, P.A.1    Browne, C.2    Gregson, N.3    Joyce, C.4    White, H.5
  • 15
    • 0025921769 scopus 로고
    • Chromosome abnormalities among 34910 newborn children: results from 13-year incidence study in Arhus, Denmark
    • Nielsen J., and Wohlert M. Chromosome abnormalities among 34910 newborn children: results from 13-year incidence study in Arhus, Denmark. Hum Genet 87 (1991) 81-83
    • (1991) Hum Genet , vol.87 , pp. 81-83
    • Nielsen, J.1    Wohlert, M.2
  • 16
    • 14044257269 scopus 로고    scopus 로고
    • Prevalence of chromosomal abnormalities in 2,078 infertile couples referred for assisted reproductive techniques
    • Clementini E., Palka C., Iezzi I., Stuppia L., Guanciali-Franchi P., and Tiboni G.M. Prevalence of chromosomal abnormalities in 2,078 infertile couples referred for assisted reproductive techniques. Hum Reprod 20 (2005) 437-442
    • (2005) Hum Reprod , vol.20 , pp. 437-442
    • Clementini, E.1    Palka, C.2    Iezzi, I.3    Stuppia, L.4    Guanciali-Franchi, P.5    Tiboni, G.M.6
  • 17
    • 12244292692 scopus 로고    scopus 로고
    • Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection
    • Foresta C., Garolla A., Bartoloni L., Bettella A., and Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 90 (2005) 152-156
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 152-156
    • Foresta, C.1    Garolla, A.2    Bartoloni, L.3    Bettella, A.4    Ferlin, A.5
  • 18
    • 27144475745 scopus 로고    scopus 로고
    • Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment?
    • Papanikolaou E.G., Vernaeve V., Kolibianakis E., Assche E.V., Bonduelle M., Liebaers I., et al. Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment?. Hum Reprod 20 (2005) 2899-2903
    • (2005) Hum Reprod , vol.20 , pp. 2899-2903
    • Papanikolaou, E.G.1    Vernaeve, V.2    Kolibianakis, E.3    Assche, E.V.4    Bonduelle, M.5    Liebaers, I.6
  • 19
    • 0034883538 scopus 로고    scopus 로고
    • Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome
    • Sonntag B., Meschede D., Ullmann V., Gassner P., Horst J., Nieschlag E., and Behre H.M. Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome. Hum Reprod 16 (2001) 1648-1652
    • (2001) Hum Reprod , vol.16 , pp. 1648-1652
    • Sonntag, B.1    Meschede, D.2    Ullmann, V.3    Gassner, P.4    Horst, J.5    Nieschlag, E.6    Behre, H.M.7
  • 20
    • 0002277952 scopus 로고
    • Disorders of sex chromosomes and sexual differentiation
    • Simpson J.L., and Golbus M.S. (Eds), WB Saunders, Philadelphia, PA
    • Simpson J.L. Disorders of sex chromosomes and sexual differentiation. In: Simpson J.L., and Golbus M.S. (Eds). Genetics in obstetrics and gynaecology (1992), WB Saunders, Philadelphia, PA 133-164
    • (1992) Genetics in obstetrics and gynaecology , pp. 133-164
    • Simpson, J.L.1
  • 22
    • 0036023277 scopus 로고    scopus 로고
    • Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate
    • Silverstein S., Lerer I., Sagi M., Frumkin A., Ben-Neriah Z., and Abeliovich D. Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate. Prenat Diagn 22 (2002) 649-651
    • (2002) Prenat Diagn , vol.22 , pp. 649-651
    • Silverstein, S.1    Lerer, I.2    Sagi, M.3    Frumkin, A.4    Ben-Neriah, Z.5    Abeliovich, D.6
  • 24
    • 0028878970 scopus 로고
    • Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected
    • Casals T., Bassas L., Ruiz-Romero J., Chillon M., Gimenez J., Ramos M.D., et al. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet 95 (1995) 205-211
    • (1995) Hum Genet , vol.95 , pp. 205-211
    • Casals, T.1    Bassas, L.2    Ruiz-Romero, J.3    Chillon, M.4    Gimenez, J.5    Ramos, M.D.6
  • 26
    • 0033575077 scopus 로고    scopus 로고
    • Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia
    • Mak V., Zielenski J., Tsui L.C., Durie P., Zini A., Martin S., et al. Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. JAMA 281 (1999) 2217-2224
    • (1999) JAMA , vol.281 , pp. 2217-2224
    • Mak, V.1    Zielenski, J.2    Tsui, L.C.3    Durie, P.4    Zini, A.5    Martin, S.6
  • 27
    • 0029086620 scopus 로고
    • Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene
    • Mickle J., Milunsky A., Amos J.A., and Oates R.D. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod 10 (1995) 1728-1735
    • (1995) Hum Reprod , vol.10 , pp. 1728-1735
    • Mickle, J.1    Milunsky, A.2    Amos, J.A.3    Oates, R.D.4
  • 28
    • 23644445832 scopus 로고    scopus 로고
    • Screening of mutations in the CFTR gene in 1,195 couples entering assisted reproduction technique programs
    • Stuppia L., Antonucci I., Binni F., Brandi A., Grifone N., Colosimo A., et al. Screening of mutations in the CFTR gene in 1,195 couples entering assisted reproduction technique programs. Eur J Hum Genet 13 (2005) 959-964
    • (2005) Eur J Hum Genet , vol.13 , pp. 959-964
    • Stuppia, L.1    Antonucci, I.2    Binni, F.3    Brandi, A.4    Grifone, N.5    Colosimo, A.6
  • 29
    • 0031399382 scopus 로고    scopus 로고
    • National Institutes of Health consensus development conference statement on genetic testing for cystic fibrosis
    • Doherty R.A. National Institutes of Health consensus development conference statement on genetic testing for cystic fibrosis. J Med Screen 4 (1997) 179-180
    • (1997) J Med Screen , vol.4 , pp. 179-180
    • Doherty, R.A.1
  • 31
    • 0035746363 scopus 로고    scopus 로고
    • Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
    • Grody W.W., Cutting G.R., Klinger K.W., Richards C.S., Watson M.S., and Desnick R.J. Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3 (2001) 149-154
    • (2001) Genet Med , vol.3 , pp. 149-154
    • Grody, W.W.1    Cutting, G.R.2    Klinger, K.W.3    Richards, C.S.4    Watson, M.S.5    Desnick, R.J.6
  • 34
    • 0033123527 scopus 로고    scopus 로고
    • Issues in implementing prenatal screening for cystic fibrosis: results of a working conference
    • Haddow J.E., Bradley L.A., Palomaki G.E., Doherty R.A., Bernhardt B.A., Brock D.J., et al. Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet Med 1 (1999) 129-135
    • (1999) Genet Med , vol.1 , pp. 129-135
    • Haddow, J.E.1    Bradley, L.A.2    Palomaki, G.E.3    Doherty, R.A.4    Bernhardt, B.A.5    Brock, D.J.6
  • 35
    • 0032439769 scopus 로고    scopus 로고
    • Screening for cystic fibrosis and its evaluation
    • Wildhagen M.F., Ten Kate L.P., and Habbema J.D. Screening for cystic fibrosis and its evaluation. Br Med Bull 54 (1998) 857-875
    • (1998) Br Med Bull , vol.54 , pp. 857-875
    • Wildhagen, M.F.1    Ten Kate, L.P.2    Habbema, J.D.3
  • 36
    • 17544366532 scopus 로고    scopus 로고
    • National Society of Genetic Counselors Subcommittee on Cystic Fibrosis Carrier Testing. Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors
    • Langfelder-Schwind E., Kloza E., Sugarman E., Pettersen B., Brown T., Jensen K., et al. National Society of Genetic Counselors Subcommittee on Cystic Fibrosis Carrier Testing. Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns 14 (2005) 1-15
    • (2005) J Genet Couns , vol.14 , pp. 1-15
    • Langfelder-Schwind, E.1    Kloza, E.2    Sugarman, E.3    Pettersen, B.4    Brown, T.5    Jensen, K.6
  • 37
    • 0027985048 scopus 로고
    • Screening for carriers of cystic fibrosis. Screening before pregnancy is needed
    • Raeburn J.A. Screening for carriers of cystic fibrosis. Screening before pregnancy is needed. BMJ 309 (1994) 1428-1429
    • (1994) BMJ , vol.309 , pp. 1428-1429
    • Raeburn, J.A.1
  • 38
    • 0036757653 scopus 로고    scopus 로고
    • Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction
    • Henneman L., Bramsen I., van der Ploeg H.M., and ten Kate L.P. Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genet Test 6 (2002) 195-202
    • (2002) Genet Test , vol.6 , pp. 195-202
    • Henneman, L.1    Bramsen, I.2    van der Ploeg, H.M.3    ten Kate, L.P.4
  • 39
    • 4143105647 scopus 로고    scopus 로고
    • Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population
    • Poppelaars F.A., Henneman L., Ader H.J., Cornel M.C., Hermens R.P., van der Wal G., et al. Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population. Genet Test 8 (2004) 80-89
    • (2004) Genet Test , vol.8 , pp. 80-89
    • Poppelaars, F.A.1    Henneman, L.2    Ader, H.J.3    Cornel, M.C.4    Hermens, R.P.5    van der Wal, G.6
  • 40
    • 0037604593 scopus 로고    scopus 로고
    • Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services
    • Henneman L., Bramsen I., van Kempen L., van Acker M.B., Pals G., van der Horst H.E., et al. Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genet 6 (2003) 5-13
    • (2003) Community Genet , vol.6 , pp. 5-13
    • Henneman, L.1    Bramsen, I.2    van Kempen, L.3    van Acker, M.B.4    Pals, G.5    van der Horst, H.E.6


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